Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 8

Results: 20

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 988, doi. 10.1002/humu.23251
By:
- Plessl, Tanja;
- Bürer, Céline;
- Lutz, Seraina;
- Yue, Wyatt W.;
- Baumgartner, Matthias R.;
- Froese, D. Sean
Publication type:
Article
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 953, doi. 10.1002/humu.23253
By:
- Yamoto, Kaori;
- Saitsu, Hirotomo;
- Nakagawa, Norio;
- Nakajima, Hisakazu;
- Hasegawa, Tatsuji;
- Fujisawa, Yasuko;
- Kagami, Masayo;
- Fukami, Maki;
- Ogata, Tsutomu
Publication type:
Article
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 959, doi. 10.1002/humu.23254
By:
- Wu, Hao;
- Zhou, Dai‐Zhan;
- Berki, Dorottya;
- Geisz, Andrea;
- Zou, Wen‐Bin;
- Sun, Xiao‐Tian;
- Hu, Liang‐Hao;
- Zhao, Zhen‐Hua;
- Zhao, An‐Jing;
- He, Lin;
- Cooper, David N.;
- Férec, Claude;
- Chen, Jian‐Min;
- Li, Zhao‐Shen;
- Sahin‐Tóth, Miklós;
- Liao, Zhuan
Publication type:
Article
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 1002, doi. 10.1002/humu.23255
By:
- Dou, Yanmei;
- Yang, Xiaoxu;
- Li, Ziyi;
- Wang, Sheng;
- Zhang, Zheng;
- Ye, Adam Yongxin;
- Yan, Linlin;
- Yang, Changhong;
- Wu, Qixi;
- Li, Jiarui;
- Zhao, Boxun;
- Huang, August Yue;
- Wei, Liping
Publication type:
Article
Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 905, doi. 10.1002/humu.23259
By:
- Vears, Danya F;
- Sénécal, Karine;
- Borry, Pascal
Publication type:
Article
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 932, doi. 10.1002/humu.23270
By:
- Poirier, Karine;
- Hubert, Laurence;
- Viot, Géraldine;
- Rio, Marlène;
- Billuart, Pierre;
- Besmond, Claude;
- Bienvenu, Thierry
Publication type:
Article
Postzygotic single nucleotide mosaicisms and autism risk.
Published in:
2017
By:
- Gottlieb, Bruce
Publication type:
Other
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 942, doi. 10.1002/humu.23246
By:
- Rainger, Joe;
- Williamson, Kathleen A;
- Soares, Dinesh C;
- Truch, Julia;
- Kurian, Dominic;
- Gillessen‐Kaesbach, Gabriele;
- Seawright, Anne;
- Prendergast, James;
- Halachev, Mihail;
- Wheeler, Ann;
- McTeir, Lynn;
- Gill, Andrew C;
- Heyningen, Veronica;
- Davey, Megan G;
- FitzPatrick, David R
Publication type:
Article
Haplotype reference consortium panel: Practical implications of imputations with large reference panels.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 1025, doi. 10.1002/humu.23247
By:
- Iglesias, Adriana I.;
- der Lee, Sven J.;
- Bonnemaijer, Pieter W.M.;
- Höhn, René;
- Nag, Abhishek;
- Gharahkhani, Puya;
- Khawaja, Anthony P.;
- Broer, Linda;
- Foster, Paul J.;
- Hammond, Christopher J.;
- Hysi, Pirro G.;
- Leeuwen, Elisabeth M.;
- MacGregor, Stuart;
- Mackey, David A.;
- Mazur, Johanna;
- Nickels, Stefan;
- Uitterlinden, André G.;
- Klaver, Caroline C.W.;
- Amin, Najaf;
- Duijn, Cornelia M.
Publication type:
Article
The novel αB-crystallin ( CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 947, doi. 10.1002/humu.23248
By:
- Brodehl, Andreas;
- Gaertner‐Rommel, Anna;
- Klauke, Bärbel;
- Grewe, Simon Andre;
- Schirmer, Ilona;
- Peterschröder, Andreas;
- Faber, Lothar;
- Vorgerd, Matthias;
- Gummert, Jan;
- Anselmetti, Dario;
- Schulz, Uwe;
- Paluszkiewicz, Lech;
- Milting, Hendrik
Publication type:
Article
When more really means more: WGS standards and quality control.
Published in:
2017
By:
- Patrinos, George P.
Publication type:
Other
Mutation of serine/threonine protein kinase 36 ( STK36) causes primary ciliary dyskinesia with a central pair defect.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 964, doi. 10.1002/humu.23261
By:
- Edelbusch, Christine;
- Cindrić, Sandra;
- Dougherty, Gerard W.;
- Loges, Niki T.;
- Olbrich, Heike;
- Rivlin, Joseph;
- Wallmeier, Julia;
- Pennekamp, Petra;
- Amirav, Israel;
- Omran, Heymut
Publication type:
Article
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 970, doi. 10.1002/humu.23262
By:
- Nasca, Alessia;
- Scotton, Chiara;
- Zaharieva, Irina;
- Neri, Marcella;
- Selvatici, Rita;
- Magnusson, Olafur Thor;
- Gal, Aniko;
- Weaver, David;
- Rossi, Rachele;
- Armaroli, Annarita;
- Pane, Marika;
- Phadke, Rahul;
- Sarkozy, Anna;
- Muntoni, Francesco;
- Hughes, Imelda;
- Cecconi, Antonella;
- Hajnóczky, György;
- Donati, Alice;
- Mercuri, Eugenio;
- Zeviani, Massimo
Publication type:
Article
RettBASE: Rett syndrome database update.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 922, doi. 10.1002/humu.23263
By:
- Krishnaraj, Rahul;
- Ho, Gladys;
- Christodoulou, John
Publication type:
Article
Pathophysiologic effects of CHCHD2 variants associated with late-onset Parkinson disease.
Published in:
2017
By:
- Kim, Jong‐Min
Publication type:
Other
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 1014, doi. 10.1002/humu.23269
By:
- Boulling, Arnaud;
- Masson, Emmanuelle;
- Zou, Wen‐Bin;
- Paliwal, Sumit;
- Wu, Hao;
- Issarapu, Prachand;
- Bhaskar, Seema;
- Génin, Emmanuelle;
- Cooper, David N.;
- Li, Zhao‐Shen;
- Chandak, Giriraj R;
- Liao, Zhuan;
- Chen, Jian‐Min;
- Férec, Claude
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 899, doi. 10.1002/humu.23097
Publication type:
Article
Cover Image, Volume 38, Issue 8.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. i, doi. 10.1002/humu.23284
By:
- Dou, Yanmei;
- Yang, Xiaoxu;
- Li, Ziyi;
- Wang, Sheng;
- Zhang, Zheng;
- Ye, Adam Yongxin;
- Yan, Linlin;
- Yang, Changhong;
- Wu, Qixi;
- Li, Jiarui;
- Zhao, Boxun;
- Huang, August Yue;
- Wei, Liping
Publication type:
Article
Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variants.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 978, doi. 10.1002/humu.23234
By:
- Tio, Murni;
- Wen, Rujing;
- Lim, Yih Lin;
- Zukifli, Zul Haikhel Bin;
- Xie, Shaoping;
- Ho, Patrick;
- Zhou, Zhidong;
- Koh, Tong‐Wey;
- Zhao, Yi;
- Tan, Eng‐King
Publication type:
Article
Critical points for an accurate human genome analysis.
Published in:
Human Mutation, 2017, v. 38, n. 8, p. 912, doi. 10.1002/humu.23238
By:
- White, Stefan J.;
- Laros, Jeroen F.J.;
- Bakker, Egbert;
- Cambon‐Thomsen, Anne;
- Eden, Martin;
- Leonard, Samantha;
- Lochmüller, Hanns;
- Matthijs, Gert;
- Mattocks, Christopher;
- Patton, Simon;
- Payne, Katherine;
- Scheffer, Hans;
- Souche, Erica;
- Thomassen, Ellen;
- Thompson, Rachel;
- Traeger‐Synodinos, Jan;
- Vooren, Steven;
- Janssen, Bart;
- den Dunnen, Johan T.
Publication type:
Article